Yu gɛt bak yu nɔr de yɛri fayn wit chenj na yu skin, yu ia, ɛn yu yay kɔlɔ? Lɛ wi tɔk bɔt dis (Waardenburg Syndrome)!

Sɔntɛnde yu go dɔn notis se pan wi pipul dɛn, pipul dɛn de we gɛt wan pat pan wayt ia frɔm we dɛn smɔl, ɔ pipul dɛn we gɛt wan blu yay ɛn di ɔda brawn yay. Sɔm pipul dɛn kin gɛt prɔblɛm wit dɛn yɛri frɔm we dɛn smɔl. Sɔntɛnde, i kin bi se sɔntin de we mek wi nɔ no bɔt dɛn kayn tin ya we wi nɔ no. Dat na wan pan dɛn kayn spɛshal sik ya we wi go tɔk bɔt tide (Waardenburg Syndrome) . Nɔ fred, wi go tɔk bɔt dis simpul wan, insay wan we we yu go ɔndastand.

Wetin na di sik we dɛn kɔl Waardenburg Syndrome? Fɔ tɔk am simpul wan...

Okay, naw lɛ wi si wetin na dis (Waardenburg Syndrome). Dis na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Dat min se na bikɔs di jin dɛn we de na wi bɔdi chenj. Fɔ tɔk di kɔrɛkt tin, dis sik kin chenj di kɔlɔ (pigmɛnt) fɔ yu ia, yay, ɛn skin . Nɔto dat nɔmɔ, bɔt sɔm pipul dɛn kin gɛt prɔblɛm wit dɛn yɛri bikɔs ɔf dis. Fo men kayn dis de (Waardenburg Syndrome). dis kayn tin dεm de kכz difrεn chenj dεm (mכtεshכn) insay siks jin dεm. Ɛni kayn we gɛt sɔm spɛshal kwaliti dɛn.

Udat kin gɛt wan sik we dɛn kɔl Waardenburg Syndrome?

Bikɔs dis na tin we pɔsin kin gɛt frɔm in bɔdi, i kin afɛkt ɛnibɔdi. Bɔku tɛm, pikin kin gɛt di jin fɔ dis sik frɔm di mama ɔ di papa. insay mεdikal tεm dεm, dεn kכl dis ``autosomal dominant'' inhεritεns. If na so i bi, di mama ɔ papa we gi di jin kin gɛt di sik bak. Imajin, if di mama ɔ di papa gɛt dɛn kwaliti dɛn ya, di pikin sɛf kin gɛt dɛn abit dɛn ya.

כltu, sכmtεm di Waardenburg Syndrome tayp II εn IV kin transmit bak as ``autosomal recessive`` jin. Dis min se di mama ɛn papa ɔl tu fɔ gɛt di jin we di sik afɛkt, bɔt dɛn nɔ gɛt ɛni sayn. Bɔt if dɛn mama ɛn papa ɔl tu pas di jin to dɛn pikin, di pikin kin gɛt dis sik.

Na smɔl tɛm nɔmɔ dis sik kin kam pan pɔsin we nɔ gɛt famili histri, bikɔs ɔf nyu jɛnɛtik muteshon.

Aw kɔmɔn tin dis?

Waardenburg Syndrome kin afɛkt lɛk wan pan ɛvri 40,000 pipul dɛm . i de rispansabl bak fכ bitwin 2% εn 5% pan di pikin dεm we dεn bכn wit di yεri we dεn kin bכn.

Aw Waardenburg Syndrome kin afɛkt mi bɔdi?

Di chenj dɛn we de apin na di jɛnɛtiks we kin mek dis apin kin afɛkt di we aw yu de yɛri . Sɔm pipul dɛn kin gɛt nɔrmal yɛri, bɔt ɔda wan dɛn kin bɔn wit siriɔs yɛri lɔs (congenital). Dɛn jin ya kin chenj bak aw yu yay, yu skin, ɛn yu ia tan . Yu kin gɛt tu ɔ mɔ difrɛn kɔlɔ yay dɛn. Dis sik kin mek sɔm pat dɛn na yu skin layt pas ɔda wan dɛn, yu ia kin chenj in kɔlɔ, ɛn yu ia kin tɔn grey, mɔ we yu rili yɔŋ .

Wetin na di sayn dɛm wae de sho se yu gɛt Waardenburg Syndrome?

De sayn dɛm fɔ dis sik kin difrɛn frɔm pɔrsin to ɔda pɔrsin. Dɛn kin difrɛn ivin insay di sem famili. Di men sayn dɛm na wae yu nɔr de yɛri fayn ɛn yu gɛt kɔlɔ na yu ia, yu skin, ɛn yu yay. Apat frɔm dat, sɔm patikyula sayn dɛn de we kin dipen pan di kayn Waardenburg Syndrome. Fɔ ɛgzampul, insay tayp 1, di distans bitwin di yay dɛn kin go ɔp, insay tayp 3, di an ɛn finga dɛn nɔ kin fayn, ɛn insay tayp 4, wan sik we de na di intestinal we dɛn kɔl Hirschsprung disease .

I nɔ de yɛri fayn

Sɔm pipul dɛm wae gɛt Waardenburg Syndrome kin gɛt mɔdaret to siriɔs yɛri lɔs na wan ɔr tu yes. Bɔt sɔm tɛm dɛn de, i nɔ kin afɛkt di we aw pɔsin de yɛri atɔl. Dis we aw pɔsin kin yɛri na tin we pɔsin kin bɔn wit .

Di simptom dɛm we de sho se pɔsin gɛt pigmɛnt

Waardenburg Syndrome kin mek yu ia, skin, ɛn yu yay kɔlɔ chenj, lɛk:

• Rili layt, blu yay.
• Fɔ gɛt tu yay we gɛt tu kɔlɔ. Imajin, wan blu ɛn di ɔda wan brawn.
• hεterochromia irides na chenj in kכla na di kכla pat na di yay (iris) ivin insay di sem yay.
• di prεsεns f כ wan wayt tuft כ tuft fכ ia na di ia, we kin bכku bכku wan oba di fכs (fכlכk).
• Grey na di ia we i rili yɔŋ.
• Fɔ gɛt spat ɔ pat na di skin we layt pas ɔda say dɛn (congenital leukoderma) .

Wetin na di kayn wae wae de mɛk yu gɛt Waardenburg Syndrome?

Fo men kayn wardenburg Syndrome de. Dɔktɔ go no dis kayn sik bay di sayn dɛm we yu gɛt.

• Tayp I: Di distans bitwin di yay dɛn tu wayd, ɛn di brij na di nos big.
• Tayp II: I nɔ kin yɛri fayn to i kin rili bad.
• Tayp III - dεn kכl am bak ``Klein-Waardenburg syndrome'': yu de yεri lכs, di skin de chenj, εn di bon dεm we de divεlכp na di an εn finga dεm.
• Tayp IV - Dɛn kin kɔl am bak Waardenburg-Shah syndrome: Along wit ɔl di ɔda tin dɛm fɔ Waardenburg syndrome, wan sik we dɛn kɔl Hirschsprung disease kin apin bak . Dis kin mek yu gɛt siriɔs kɔnstipɛshɔn ɔ yu intestinal ɔbstrukshɔn.

Fɔ dɛn wan ya, di kayn I ɛn II na dɛn kin bɔku pas ɔl. Tayp III ɛn IV nɔ kin bɔku.

Wetin na de tin wae kin mek pɔrsin gɛt Waardenburg Syndrome?

Waardenburg Syndrome kin kam bikɔs wan ɔr mɔr pan dɛn jin ya kin chenj:

• `(EDN3)` (fɔ tayp IV)
• `(EDNRB)` (fɔ tayp IV)
• `(MITF)` (fɔ tayp II)
• `(PAX3)` (fɔ di kayn I ɛn III)
• `(SNAI2)` (fɔ tayp II)
• `(SOX10)` (fɔ tayp IV)

na dεn jin dεm ya de mek di difrεn kayn sεl dεm na wi bכdi. pan dεm, wan spεshal tכp sεl we dεn kכl ``melanosayt`` de mek fכ dεn sεl dεm ya. dis sεl dεm de mek di pigmεnt ``melanin pigment`` we de gi kכla to wi skin, ia, εn yay.Apat frɔm we dɛn sɛl dɛn ya de mek pigmɛnt dɛn, dɛn kin ɛp bak fɔ mek di insay pat na wi yes wok. So, if chenj de pan ɛni wan pan dɛn jin ya, i kin mek dɛn gɛt dɛn sik ya.

Aw dɛn kin no se pɔsin gɛt Waardenburg Syndrome?

Yu pikin in dɔktɔ go mɔs no se i gɛt Waardenburg Syndrome we dɛn bɔn am ɔ we i smɔl . Dɛn go du wan ɛgzam fɔ yu bɔdi fɔ luk fɔ di sayn dɛm ɛn yu famili in mɛdikal histri. Yu dɔktɔ kin tɛl yu bak fɔ du yu jenɛtik tɛst fɔ no if yu gɛt di sik ɛn fɔ luk fɔ ɔda sayn dɛn we gɛt fɔ du wit di sik, lɛk:

• Wan ay ɛgzam.
• Wan tɛst fɔ yɛri .
• Dipכnt pan di kayn sayn dεm, dεn kin du imej tεst pan di insay yes, an εn finga dεm, כ intestכn.

Aw dɛn kin trit Waardenburg Syndrome?

Nɔto ɔl kayn Waardenburg Syndrome nid tritmɛnt. Bɔt if ɛni sayn de, dɛn kin trit am as nid de. Fɔ ɛgzampul:

• Yuz tin fɔ ɛp yu fɔ yɛri ɔ fɔ gɛt ɔpreshɔn fɔ mek yu nɔ yɛri fayn.
• Yuz sanskrin fɔ protɛkt eria dɛn we gɛt skin pigmɛnt chenj frɔm di san .
• If yu gɛt kɔnstipɛshɔn (espɛshali tayp IV), tek mɛrɛsin ɔ it tin we gɛt bɔku fayv .
• Ɔpreshɔn fɔ pul ɔ ripɛnt wan pat pan di intestin we dɔn blok (tayp IV).
• Yuz loshan ɔ ɔntmɛnt we yu kin put pan yu bɔdi fɔ mek yu skin gɛt wɛlbɔdi.

Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Waardenburg Syndrome?

Bikɔs na wan chenj we de apin na di jɛnɛtiks kin mek dis apin, no rial we nɔ de fɔ mek i nɔ apin . Bɔt if yu want fɔ no yu risk fɔ bɔn pikin we gɛt wan sik we de mek yu gɛt jɛnɛtiks, yu kin tɔk to dɔktɔ bɔt aw fɔ advays yu jɛnɛtiks ɛn tɛst .

Wetin a fɔ ɛkspɛkt if mi pikin gɛt Waardenburg Syndrome?

If dɛn no se yu pikin gɛt Waardenburg Syndrome, i impɔtant fɔ mek yu de du tɛst fɔ yɛri ɔltɛm ɔlsay na in layf. Dis kin min fɔ go to dɔktɔ ɔ ɔdiɔlɔjis. dis na biכs di prכblεm dεm fכ yεri we kin apin na pikin kin delay di divεlכpmεnt maylston dεm εn afekt di kכgnitiv divεlכpmεnt . Bɔt bɔku tɛm, pipul dɛn we gɛt dis sik kin bɛnifit we dɛn put dɛn kɔklia ɛn tin dɛn we dɛn kin yuz fɔ ɛp dɛn fɔ yɛri .

Di tin we impɔtant pas ɔl na fɔ no aw yu pikin nɔ de yɛri fayn kwik kwik wan ɛn gi di tin we nid fɔ du.

Yu pikin in ia, in yay, ɛn in skin kɔlɔ kin mek i fil bad ɛn difrɛn frɔm in kɔmpin dɛn. Insay dɛn kayn tin ya, sɔm pikin dɛn kin bɛnifit frɔm saykolojik kɔyl tɛknik lɛk kɔgnitiv bihayvya tɛrapi (CBT) fɔ ɛp dɛn fɔ gɛt kɔnfidɛns pan dɛnsɛf.

Pipul wae gɛt Waardenburg Syndrome kin gɛt nɔrmal layf . Nɔr mɛrɛsin nɔr de fɔ dis, bɔt dɛn kin ebul fɔ kɔntrol di sayn dɛm ɛn pipul dɛm kin liv fayn layf.

Ustɛm a fɔ go to dɔktɔ?

If yu sik de mek i nɔ izi fɔ du tin dɛn we yu de du ɛvride, mɔ if yu nɔ de yɛri fayn , ɔ if yu gɛt prɔblɛm lɛk we yu de kɔnstipɛshɔn ɔltɛm , mek shɔ se yu go to dɔktɔ.

Us kwɛstyɔn dɛn a fɔ aks di dɔktɔ?

We yu go to dɔktɔ, yu kin aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• A nid fɔ yuz tin fɔ ɛp fɔ yɛri?
• A nid ɔpreshɔn fɔ mek a yɛri fayn?
• Aw a go protɛkt mi skin frɔm di san?
• If a gɛt chenj na mi ia kɔlɔ, a kin day mi ia?

Fɔ dɔn, wetin fɔ mɛmba (Take-Home Message) .

Pan ɔl we yu kin gɛt sɔm chenj dɛn na yu luk bikɔs ɔf Waardenburg Syndrome, na dɛn tin dɛn de mek yu spɛshal . Sɔntɛnde, mɔ pan pikin dɛm, if dɛn sik ya de mek yu nɔr fil fayn, i go fayn fɔ tɔk to pɔsin we de gi advays bɔt mental wɛlbɔdi biznɛs fɔ ɛp dɛn fɔ gɛt kɔnfidɛns pan dɛnsɛf . If dɛn no se yu pikin gɛt Waardenburg Syndrome, wach aw i de gro fayn fayn wan ɔlsay na in pikin. Dis go ɛp fɔ mek shɔ se di sayn dɛm nɔr de afɛkt dɛn intɛlektual divɛlɔpmɛnt ɔr dɛn ebul fɔ gro fayn fayn wan. Nɔ wɔri, wit di rayt mɛrɛsin advays ɛn sɔpɔt, yu kin liv fayn fayn wan wit dis sik!

` Waardenburg Syndrome, jεnεtik sik dεm, di skin kכla chenj, di ia kכla chenj, di yay kכla chenj, di yεri we dεn nכ de yεri fayn, we dεn bכn am nכ de yεri